Abstract

During the 20th century, expert pathologists contributed an in-depth characterisation of the anatomical pathology and associated pathophysiology of congenital heart disease (CHD). Starting in the 1970s, the reported CHD birth prevalence has been increasing, owing to advances in diagnostic methods. Over the years, surgical treatments have been associated with an enormous reduction of CHD mortality. Advances also have been made in understanding the developmental biology and molecular pathogenesis of CHD. In developed countries, sudden infant death syndrome (SIDS) is the most frequent form of death during the first year of life, with a death rate of 0.42 every 1000 births. Unexpected stillbirth has a six- to eightfold greater incidence than that of SIDS and remains unexplained in 40–80% of cases even after autopsy. Specific environmental risk factors, such as maternal smoking, air and water pollution, food contamination, pesticides, etc, can interact with the genetic constitution in complex ways, which may lead to polymorphisms and/or mutations of specific genes, such as polymorphisms in the serotonin transporter gene 5-HTT, the regulator of the synaptic serotonin concentration. Current directions of research in this area are reviewed.